Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States
Hoover-Fong, Julie E., Alade, Adekemi Y., Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Liu, Chengxin, McGready, John, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Schulze, Kerry J., Serna, Maria Elena, Smid, Cory J., Bober, Michael B.
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers
Nahm, Nickolas J, Mackenzie, W G Stuart, Mackenzie, William G, Gough, Ethan, Hashmi, S Shahrukh, Hecht, Jacqueline T, Legare, Janet M, Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M, Rodriguez-Buritica, David F, Serna, Maria Elena, Smid, Cory J, Hoover-Fong, Julie, Bober, Michael B
Published in Orphanet journal of rare diseases (06.06.2023)
Published in Orphanet journal of rare diseases (06.06.2023)
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Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1
Kaplan, Frederick S, Xu, Meiqi, Seemann, Petra, Connor, J. Michael, Glaser, David L, Carroll, Liam, Delai, Patricia, Fastnacht-Urban, Elisabeth, Forman, Stephen J, Gillessen-Kaesbach, Gabriele, Hoover-Fong, Julie, Köster, Bernhard, Pauli, Richard M, Reardon, William, Zaidi, Syed-Adeel, Zasloff, Michael, Morhart, Rolf, Mundlos, Stefan, Groppe, Jay, Shore, Eileen M
Published in Human mutation (01.03.2009)
Published in Human mutation (01.03.2009)
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Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US
Hoover-Fong, Julie E, Schulze, Kerry J, Alade, Adekemi Y, Bober, Michael B, Gough, Ethan, Hashmi, S Shahrukh, Hecht, Jacqueline T, Legare, Janet M, Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M, Rodriguez-Buritica, David F, Serna, Maria E, Smid, Cory, Liu, Chengxin, McGready, John
Published in Orphanet journal of rare diseases (23.12.2021)
Published in Orphanet journal of rare diseases (23.12.2021)
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Multicenter study of mortality in achondroplasia
Hashmi, S. Shahrukh, Gamble, Candace, Hoover‐Fong, Julie, Alade, Adekemi Yewande, Pauli, Richard M., Modaff, Peggy, Carney, Meagan, Brown, Cassondra, Bober, Michael B., Hecht, Jacqueline T.
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Hoover-Fong, Julie, Sobreira, Nara, Jurgens, Julie, Modaff, Peggy, Blout, Carrie, Moser, Ann, Kim, Ok-Hwa, Cho, Tae-Joon, Cho, Sung Yoon, Kim, Sang Jin, Jin, Dong-Kyu, Kitoh, Hiroshi, Park, Woong-Yang, Ling, Hua, Hetrick, Kurt N., Doheny, Kimberly F., Valle, David, Pauli, Richard M.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia
Hul, Els Van, Warman, Matthew L, Al-Alami, Jamil, Roudier, Jean, Bahabri, Sultan A, Hurvitz, Jennifer R, Pauli, Richard M, El-Shanti, Hatem, Rezai-Delui, Hossien, Van Hul, Wim, Suwairi, Wafaa M, Legius, Eric, Holderbaum, Daniel, Herd, J. Kenneth, Superti-Furga, Andrea, Le Merrer, Martine
Published in Nature genetics (01.09.1999)
Published in Nature genetics (01.09.1999)
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Achondroplasia is associated with increased occurrence of apparent life‐threatening events
Legare, Janet M., Smid, Cory J., Modaff, Peggy, Pauli, Richard M.
Published in Acta Paediatrica (01.06.2021)
Published in Acta Paediatrica (01.06.2021)
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Chondrodysplasia punctata associated with malabsorption from bariatric procedures
Kang, Lisa, M.D, Marty, Denise, M.S, Pauli, Richard M., M.D., Ph.D, Mendelsohn, Nancy J., M.D, Prachand, Vivek, M.D, Waggoner, Darrel, M.D
Published in Surgery for obesity and related diseases (2010)
Published in Surgery for obesity and related diseases (2010)
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Craniocervical junction issues after infancy in achondroplasia
Smid, Cory J., Legare, Janet M., Modaff, Peggy, Pauli, Richard M.
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
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Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
SIMPSON, Michael A, IRVING, Melita D, KIM, Katherine H, PAULI, Richard M, AFTIMOS, Salim, STEWART, Helen, CHONG AE KIM, HOLDER- ESPINASSE, Muriel, ROBERTSON, Stephen P, DRAKE, William M, TREMBATH, Richard C, ASILMAZ, Esra, GRAY, Mary J, DAFOU, Dimitra, ELMSLIE, Frances V, MANSOUR, Sahar, HOLDER, Sue E, BRAIN, Caroline E, BURTON, Barbara K
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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DLL3 as a candidate gene for vertebral malformations
Giampietro, Philip F., Raggio, Cathleen L., Reynolds, Cory, Ghebranious, Nader, Burmester, James K., Glurich, Ingrid, Rasmussen, Kristen, McPherson, Elizabeth, Pauli, Richard M., Shukla, Sanjay K., Merchant, Sajid, Jacobsen, F. Stig, Faciszewski, Thomas, Blank, Robert D.
Published in American journal of medical genetics. Part A (15.11.2006)
Published in American journal of medical genetics. Part A (15.11.2006)
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Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia
Brar, Bobby K., Bober, Michael B., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Dujmusic, Lorena, Little, Mary E., Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria E., Smid, Cory, Legare, Janet M., Hoover-Fong, Julie E.
Published in Genetics in medicine (01.07.2023)
Published in Genetics in medicine (01.07.2023)
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Weight gain velocity in infants with achondroplasia
Buratti, Madeleine E., Eickhoff, Jens, Modaff, Peggy, Pauli, Richard M., Legare, Janet M.
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
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Acanthosis nigricans in achondroplasia
Smid, Cory J., Modaff, Peggy, Alade, Adekemi, Legare, Janet M., Pauli, Richard M.
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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